50 research outputs found

    Detection of carbon monoxide's 4.6 micron fundamental band structure in WASP-39b's atmosphere with JWST NIRSpec G395H

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    Carbon monoxide (CO) is predicted to be the dominant carbon-bearing molecule in giant planet atmospheres and, along with water, is important for discerning the oxygen and therefore carbon-to-oxygen ratio of these planets. The fundamental absorption mode of CO has a broad, double-branched structure composed of many individual absorption lines from 4.3 to 5.1 μm, which can now be spectroscopically measured with JWST. Here we present a technique for detecting the rotational sub-band structure of CO at medium resolution with the NIRSpec G395H instrument. We use a single transit observation of the hot Jupiter WASP-39b from the JWST Transiting Exoplanet Community Early Release Science (JTEC ERS) program at the native resolution of the instrument (R ~ 2700) to resolve the CO absorption structure. We robustly detect absorption by CO, with an increase in transit depth of 264 ± 68 ppm, in agreement with the predicted CO contribution from the best-fit model at low resolution. This detection confirms our theoretical expectations that CO is the dominant carbon-bearing molecule in WASP-39b's atmosphere and further supports the conclusions of low C/O and supersolar metallicities presented in the JTEC ERS papers for WASP-39b

    Hydrophilic interaction liquid chromatography (HILIC) in proteomics

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    In proteomics, nanoflow multidimensional chromatography is now the gold standard for the separation of complex mixtures of peptides as generated by in-solution digestion of whole-cell lysates. Ideally, the different stationary phases used in multidimensional chromatography should provide orthogonal separation characteristics. For this reason, the combination of strong cation exchange chromatography (SCX) and reversed-phase (RP) chromatography is the most widely used combination for the separation of peptides. Here, we review the potential of hydrophilic interaction liquid chromatography (HILIC) as a separation tool in the multidimensional separation of peptides in proteomics applications. Recent work has revealed that HILIC may provide an excellent alternative to SCX, possessing several advantages in the area of separation power and targeted analysis of protein post-translational modifications

    Prader–Willi syndrome and autism spectrum disorders: an evolving story

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    Prader–Willi syndrome (PWS) is well-known for its genetic and phenotypic complexities. Caused by a lack of paternally derived imprinted material on chromosome 15q11–q13, individuals with PWS have mild to moderate intellectual disabilities, repetitive and compulsive behaviors, skin picking, tantrums, irritability, hyperphagia, and increased risks of obesity. Many individuals also have co-occurring autism spectrum disorders (ASDs), psychosis, and mood disorders. Although the PWS 15q11–q13 region confers risks for autism, relatively few studies have assessed autism symptoms in PWS or directly compared social, behavioral, and cognitive functioning across groups with autism or PWS. This article identifies areas of phenotypic overlap and difference between PWS and ASD in core autism symptoms and in such comorbidities as psychiatric disorders, and dysregulated sleep and eating. Though future studies are needed, PWS provides a promising alternative lens into specific symptoms and comorbidities of autism

    Long-term outcome of chronic dialysis in children

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    As the prevalence of children on renal replacement therapy (RRT) increases world wide and such therapy comprises at least 2% of any national dialysis or transplant programme, it is essential that paediatric nephrologists are able to advise families on the possible outcome for their child on dialysis. Most children start dialysis with the expectation that successful renal transplantation is an achievable goal and will provide the best survival and quality of life. However, some will require long-term dialysis or may return intermittently to dialysis during the course of their chronic kidney disease (CKD). This article reviews the available outcome data for children on chronic dialysis as well as extrapolating data from the larger adult dialysis experience to inform our paediatric practice. The multiple factors that may influence outcome, and, particularly, those that can potentially be modified, are discussed

    Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

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    A comprehensive literature search was performed to collate evidence of mitochondrial dysfunction in autism spectrum disorders (ASDs) with two primary objectives. First, features of mitochondrial dysfunction in the general population of children with ASD were identified. Second, characteristics of mitochondrial dysfunction in children with ASD and concomitant mitochondrial disease (MD) were compared with published literature of two general populations: ASD children without MD, and non-ASD children with MD. The prevalence of MD in the general population of ASD was 5.0% (95% confidence interval 3.2, 6.9%), much higher than found in the general population (∼0.01%). The prevalence of abnormal biomarker values of mitochondrial dysfunction was high in ASD, much higher than the prevalence of MD. Variances and mean values of many mitochondrial biomarkers (lactate, pyruvate, carnitine and ubiquinone) were significantly different between ASD and controls. Some markers correlated with ASD severity. Neuroimaging, in vitro and post-mortem brain studies were consistent with an elevated prevalence of mitochondrial dysfunction in ASD. Taken together, these findings suggest children with ASD have a spectrum of mitochondrial dysfunction of differing severity. Eighteen publications representing a total of 112 children with ASD and MD (ASD/MD) were identified. The prevalence of developmental regression (52%), seizures (41%), motor delay (51%), gastrointestinal abnormalities (74%), female gender (39%), and elevated lactate (78%) and pyruvate (45%) was significantly higher in ASD/MD compared with the general ASD population. The prevalence of many of these abnormalities was similar to the general population of children with MD, suggesting that ASD/MD represents a distinct subgroup of children with MD. Most ASD/MD cases (79%) were not associated with genetic abnormalities, raising the possibility of secondary mitochondrial dysfunction. Treatment studies for ASD/MD were limited, although improvements were noted in some studies with carnitine, co-enzyme Q10 and B-vitamins. Many studies suffered from limitations, including small sample sizes, referral or publication biases, and variability in protocols for selecting children for MD workup, collecting mitochondrial biomarkers and defining MD. Overall, this evidence supports the notion that mitochondrial dysfunction is associated with ASD. Additional studies are needed to further define the role of mitochondrial dysfunction in ASD

    Gastrointestinal Problems in Children with Autism, Developmental Delays or Typical Development

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    OBJECTIVES: To compare GI problems among children with: 1) autism spectrum disorder (ASD), 2) developmental delay (DD) and 3) typical development (TD). METHODS: In 960 children from the CHildhood Autism Risks from Genetics and the Environment (CHARGE) study, we assessed GI symptom frequency. We examined scores on five Aberrant Behavior Checklist subscales comparing ASD children with high vs. low frequency GI symptoms. RESULTS: Compared to TD children, those with ASD (aOR 7.92[4.89–12.85]) and DD (aOR 4.55 [2.51–8.24]) were more likely to have at least one frequent GI symptom. Restricting to ASD children, those with frequent abdominal pain, gaseousness, diarrhea, constipation or pain on stooling scored worse on Irritability, Social Withdrawal, Stereotypy, and Hyperactivity compared with children having no frequent GI symptoms. CONCLUSIONS: Frequent GI problems affect young children with ASD and DD more commonly than those with TD. Maladaptive behaviors correlate with GI problems, suggesting these comorbidities require attention
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